Related Experiment Videos
Haemophagocytosis in hereditary fructose intolerance: a diagnostic dilemma
1Department of Pediatrics, Rambam Medical Center, Technion-Faculty of Medicine, Haifa, Israel.
Journal of Inherited Metabolic Disease
|January 1, 1990
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Explainable hybrid convolutional and transformer network for pediatric sleep apnea diagnosis using nocturnal oximetry.
Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference·2025
Phenotypic Characterization of Sleep Apnea Using Clusters Derived from Subject-Based SpO2 Weighted Correlation Networks.
Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference·2025
Longitudinal Assessment of Cognitive Development in 23 Patients With Mucopolysaccharidosis (MPS) Type II: Results of up to 14 Years of Follow-Up.
Journal of inherited metabolic disease·2026
Distinct Urea Cycle Dysfunction Profiles Differentiate Acute Metabolic Decompensation in TMEM70 and MT-ATP6-Related Mitochondrial ATP Synthase Defects.
Journal of inherited metabolic disease·2026
Sarcopenia in Pediatric Intoxication Type Inborn Errors of Metabolism: A Frequent and Underrecognized Condition.
Journal of inherited metabolic disease·2026
Genome Editing for Glycogen Storage Diseases.
Journal of inherited metabolic disease·2026
Results From a Phase 2, Open-Label Study Evaluating the Safety, Tolerability, and Effect on Ataxia of GLM101 in Three Adult Patients With PMM2-CDG.
Journal of inherited metabolic disease·2026